CF MUTATIONS

Cerulean

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jennifer1981</b></i>

This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.</end quote></div>

LOL You aren't so bad after all. I just found out what my mutations are last month and I am 42!
 

Cerulean

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jennifer1981</b></i>

This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.</end quote>

LOL You aren't so bad after all. I just found out what my mutations are last month and I am 42!
 

Cerulean

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Jennifer1981</b></i>
<br />
<br />This is going to sound ignorant, but I am 25-years-old and have NO idea what my mutation is. I know. That's pretty bad. Go ahead. Yell at me. I think I should ask my doctor the next time I go. I really should know what mutation I am.</end quote>
<br />
<br />LOL You aren't so bad after all. I just found out what my mutations are last month and I am 42!
 

Marjolein

New member
I think this could very well be.
I have DDF508, and have always had very bad lungs, starting from when I was 4 years old. According to the progress in my CF you would think DDF508 would be classed as I.
And I know more stories like this.
 

Marjolein

New member
I think this could very well be.
I have DDF508, and have always had very bad lungs, starting from when I was 4 years old. According to the progress in my CF you would think DDF508 would be classed as I.
And I know more stories like this.
 

Marjolein

New member
I think this could very well be.
I have DDF508, and have always had very bad lungs, starting from when I was 4 years old. According to the progress in my CF you would think DDF508 would be classed as I.
And I know more stories like this.
 

Marjolein

New member
I think this could very well be.
I have DDF508, and have always had very bad lungs, starting from when I was 4 years old. According to the progress in my CF you would think DDF508 would be classed as I.
And I know more stories like this.
 

Marjolein

New member
I think this could very well be.
<br />I have DDF508, and have always had very bad lungs, starting from when I was 4 years old. According to the progress in my CF you would think DDF508 would be classed as I.
<br />And I know more stories like this.
 
M

mom2can

Guest
Oh my gosh. I just stopped dead in my (reading) tracks at your next to last paragraph. You have 1898+1G>A just like my son. I found a comment about an hour ago from a mother on here who mentioned her son had this too, but his other mutation was different than my son, Caleb's. He has df508 and this one. It may sound weird, but it is comforting to see someone else out there with the same mutation you know? You don't feel so alone in your efforts to tackle CF....

Your posts are SO helpful btw. You provide so much knowledge and references.

Courtney





Since we're bumping it as a useful read, I will add this stuff. Read it at your leisure, it's a lot of scientific mumbo-jumbo... but it explains some of the science behind why stuff doesn't work.

There are several different types of mutations. I will use the short sequence GTACGCA as a genetic example to show all the different types. Let me first explain very simply how this stuff works. A C G T all stand for different bases. Every three are read together, to make different amino acids. For example, GTA makes an acid called Histidine. The CGC makes an acid called Alanine. And so on.

Nonsense, as Allie said, stops the chain altogether. If that GTACGC sequence was lengthened to GTACGCATCGATGCTGGTATCGATTC, a nonsense mutation would be in there somewhere and would cut the chain completely off. There are certain combinations of letters in the genetic code that stop the chain wherever it is, no matter what it's doing. That's a nonsense.

Substitution mutations are when one letter gets changed for another. So GTACGCA could become GCACGCA, changing the GTA to GCA, which changes the amino acid from Histidine to Arginine.

Frameshift mutations are called additions or deletions. One letter is added or deleted from what's supposed to be there and that changes every amino acid down the line. If you have take our example of GTACGCA and add a letter in, it would become something like CGTACGCA. That changes the acids from (GTA) Histidine and (CGC) Alanine to (CGT) Alanine and (ACG) Cysteine. If you delete a letter, it might change our GTACGCA to something like GACGCA. That changes our last two acids from (GTA) Histidine and (CGC) Alanine to (GAC) Leucine and (GCA) Arginine.

There are also splice mutations (like mine, called 1898+1G>A), and I don't know exactly how those work. I didn't learn that in my bio class. Hahaha. But I imagine it squishes two of those letters together, again changing the amino acids in the chain.

I know this is really kind of confusing, if anyone needs anything further explained or rephrased, just ask and I'll try my best.
 
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